ONTOLOGY REPORT - ANNOTATIONS


Term:Costello syndrome
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Accession:DOID:0050469 term browser browse the term
Definition:Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Synonyms:exact_synonym: CSTLO;   FCS Syndrome;   FCS syndromes;   Faciocutaneoskeletal Syndromes;   faciocutaneoskeletal syndrome
 narrow_synonym: CMEMS;   FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
 primary_id: MESH:D056685
 alt_id: OMIM:218040;   RDO:0007748
 xref: GARD:1550
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Costello syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:7240710
RGD:8554872
RGD:11070051
RGD:11085804
RGD:11554173
RGD:10412308
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      Costello syndrome 8
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Costello syndrome 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.